| S.NO | Uniprot ID | Protein Name | Sequence Length | Thioredoxin Repeats region | Disease |
| 1 | P07237 | Protein disulfide-isomerase | 508 | "DISEASE: Cole-Carpenter syndrome 1 (CLCRP1) [MIM:112240]: A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP1 inheritance is autosomal dominant. Note=The disease is caused by mutations affecting the gene represented in this entry". | |